Thanatophoric Dysplasia, Type I (TD1)

Thanatophoric Dysplasia, Type I(来自ICD-11)

别称:

Thanatophoric Dysplasia

Thanatophoric Dysplasia Type 1

Thanatophoric Dwarfism

Td1

Thanatophoric Short Stature

Thanatophoric Dwarfism Type 1

Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type

Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type

Platyspondylic Lethal Skeletal Dysplasia, San Diego Type

Platyspondylic Lethal Skeletal Dysplasia San Diego Type

Thanatophoric Dwarfism or Short Stature

Dysplasia, Thanatophoric, Type I

Thanatophoric Dwarfism Syndrome

Thanatophoric Dysplasia Type I

Td - [thanatophoric Dwarfism]

Thanatophoric Dysplasia 1

Dwarf, Thanatophoric

Thanatophoric Dwarf

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Thanatophoric Dysplasia, Type I, also known as thanatophoric dysplasia, is related to platyspondylic lethal skeletal dysplasia, torrance type and achondrogenesis. An important gene associated with Thanatophoric Dysplasia, Type I is FGFR3 (Fibroblast Growth Factor Receptor 3), and among its related pathways/superpathways are Infectious disease and ERK Signaling. Affiliated tissues include temporal lobe and bone, and related phenotypes are macrocephaly and hypotonia

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